Publications by authors named "Luca Mauro"

Background: In cardiovascular engineering, the recent introduction of soft robotic technologies sheds new light on the future of implantable cardiac devices, enabling the replication of complex bioinspired architectures and motions. To support human heart function, assistive devices and total artificial hearts have been developed. However, the system's functionality, hemocompatibility, and overall implantability are still open challenges.

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Background & Aims: Considerable interest has been recently given to the potential role of the gut-brain axis (GBA) -a two-way communication network between the gut microbiota and the central nervous system- in the pathogenesis of attention-deficit hyperactivity disorder (ADHD), suggesting the potential usefulness of probiotic and synbiotic supplementations. In light of the limited available evidence, synbiotic efficacy in ADHD children not taking medications should be clarified. This study aimed to investigate the efficacy of a synbiotic dietary supplementation on fatty acids levels as well as on microbiota composition, behaviour, cognition, and brain function in children with ADHD.

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Purpose: To describe the retinal phenotype associated with the p.Pro101Thr BEST1 variant.

Design: Retrospective, observational case series.

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Purpose: To analyze fixation location and stability in best vitelliform macular dystrophy (BVMD) and test their association with best-corrected visual acuity (BCVA).

Design: Observational, cross-sectional study.

Participants: Thirty patients (55 eyes) affected by genetically confirmed BVMD were followed up at the Retinal Heredodystrophies Unit of IRCCS San Raffaele Scientific Institute, Milan.

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Article Synopsis
  • Bulbar and jaw muscle impairments in SMA patients are assessed using various performance tests, revealing significant issues with mastication and swallowing in both children and adults, especially in sitters compared to walkers.
  • A 2-year study of 78 participants demonstrated that a substantial percentage of children experienced reduced mouth opening and prolonged eating times, while treated adults had normal oral function metrics contrasted with untreated adults showing severe impairments.
  • Long-term treatment with nusinersen appears to stabilize oro-bulbar functions in SMA patients, as the majority reported minimal issues with swallowing and mastication, suggesting the need for more effective evaluation measures in this area.
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Introduction: Myotonic dystrophy type 1 is a slowly progressive, multisystem, autosomal dominant disorder, in which the impairments of respiratory systems represent one of the main causes of death.

Objective: The aim of our study is to develop prediction models to identify the most appropriate test(s) providing indication for NIV.

Methods: DM1 patients attending the NEMO Clinical Center (Milan) between January 2008 and July 2020, who had been subjected to a complete battery of respiratory tests, were retrospectively recruited.

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Introduction: Respiratory insufficiency is one of the main causes of death in myotonic dystrophy type 1 (DM1). Although there is general consensus that these patients have a restrictive ventilatory pattern, hypoventilation, chronic hypercapnia, and sleep disturbances, the prevalence of respiratory disease and indication for the effects of noninvasive ventilation (NIV) need to be further explored.

Objectives: To describe respiratory function and need for NIV at baseline and over time in a cohort of adult patients with DM1.

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Study Objectives: The present study aimed at identifying the sleep-wake rhythm in patients with myotonic dystrophy type 1 (DM1) compared to healthy controls.

Methods: Patients with genetic diagnosis of DM1 and healthy controls underwent a 7-day actigraphic recording and filled out a daily sleep diary to evaluate the sleep-wake rhythm. All participants underwent a physical and neurological examination to exclude conditions interfering with the sleep-wake cycle.

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Study Objectives: Excessive daytime sleepiness (EDS) in myotonic dystrophy type 1 is mostly of central origin but it may coexist with sleep-related breathing disorders. However, there is no consensus on the sleep protocols to be used, assessments vary, and only a minority of patients are regularly tested or are on treatment for EDS. Our study presents data on self-reported and objective EDS in adult-onset myotonic dystrophy type 1.

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Objective: This study examined neurophysiological (NI), split-hand (SI) and split-leg (SLI) index in patients with amyotrophic lateral sclerosis (ALS), and their correlation with functional status, disease duration, staging and survival.

Methods: Eighty-two patients underwent nerve conduction study to analyze NI, SI and SLI. Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R), disease progression rate (ΔFS), Milano-Torino (MiToS) and King's staging systems, Forced Vital Capacity (FVC), and survival data were collected.

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Patient report outcome measures in Spinal Muscular Atrophy (SMA) represent a potential complement to observer rated scales which can be used to better understand treatment response. We developed, translated and validated an Italian version of the Spinal Muscular Atrophy Health Index (SMAHI), a disease-specific, patient reported outcome measure questionnaire, designed to estimate the patients' perception of disease burden. Test-retest reliability was assessed in 37 patients (16 children aged 12-17 and 21 adults) and was excellent in both cohorts.

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Objective: The purpose of this study was to assess endothelial dysfunction in women with preeclampsia by measuring endothelial microparticles.

Study Design: A case-control study was conducted on 20 women with preeclampsia and 20 healthy pregnant women as control subjects. Endothelial microparticles were measured by flow cytometry with anti-CD31 and anti-CD42.

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